Testis & epididymis
Development
Androgen insensitivity
Author: Turki Al-Hussain, M.D.
Topic Completed: 1 September 2012
Minor changes: 8 September 2020
Copyright: 2002-2020, PathologyOutlines.com, Inc.
PubMed Search: Androgen insensitivity syndrome [title]
Table of Contents
Definition / general | Clinical features | Case reports | Gross description | Microscopic (histologic) descriptionCite this page: Al-Hussain T. Androgen insensitivity. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testisandrogeninsens.html. Accessed September 20th, 2020.
Definition / general
- Either XY or XXY
- Called testicular feminization if complete
- Most frequent cause of male pseudohermaphroditism
- Lack of androgen receptor due to mutations in gene on X chromosome
Clinical features
- Phenotypic female, tall with well formed breasts, absent / scanty pubic and axillary hair, shallow vagina and lack of upper vagina because anti-Müllerian hormone (AMH) causes Müllerian duct regression
- Patients also have bilateral cryptorchidism with intraabdominal, inguinal or labial testes; usually no Wolffian or Müllerian derivatives
- Recommend gonadectomy by puberty since associated with germ cell tumors (30% by age 50)
Case reports
- 15 year old girl with complete androgen insensitivity with Sertoli cell tumor and intratubular germ cell neoplasia in separate gonads (J Pediatr Endocrinol Metab 2012;25:547)
- 16 year old girl with complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas (J Pediatr Urol 2013;9:e31)
- Young woman with associated seminoma (Mod Pathol 1993;6:89)
Gross description
- Tanish brown testes with multiple white nodules of Sertoli cells and Wolffian / Müllerian duct cysts at lateral pole of testis
Microscopic (histologic) description
- Small seminiferous tubules without lumina composed of Sertoli cells only, usually immature, with sparse spermatogonia, marked Leydig cell hyperplasia (often without Reinke crystals), ovarian type stroma; nodules are probably hamartomas of Sertoli cells
